1,869 results match your criteria Pseudohypoparathyroidism


Inactivating PTH/PTHrP Signaling Disorders.

Front Horm Res 2019 19;51:147-159. Epub 2018 Nov 19.

Pseudohypoparathyroidism (PHP), pseudo-PHP, acrodysostosis, and progressive osseous heteroplasia are heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, a stocky build, ectopic ossifications (features associated with Albright's hereditary osteodystrophy), as well as laboratory abnormalities consistent with hormone resistance, such as hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) and thyroid-stimulating hormone levels. All these disorders are caused by impairments in the cAMP-mediated signal transduction pathway and, in particular, in the PTH/PTHrP signaling pathway: the main subtypes of PHP and related disorders are caused by de novo or autosomal dominantly inherited inactivating genetic mutations, and/or epigenetic, sporadic, or genetic-based alterations within or upstream of GNAS, PRKAR1A, PDE4D, and PDE3A. Here we will review the impressive progress that has been made over the past 30 years on the pathophysiology of these diseases and will describe the recently proposed novel nomenclature and classification. Read More

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http://dx.doi.org/10.1159/000491045DOI Listing
November 2018

Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3.

Clin Epigenetics 2019 Jan 7;11(1). Epub 2019 Jan 7.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Milan, Italy.

Background: The term pseudohypoparathyroidism (PHP) describes disorders derived from resistance to the parathyroid hormone. Albright hereditary osteodystrophy (AHO) is a disorder with several physical features that can occur alone or in association with PHP. The subtype 1B, classically associated with resistance to PTH and TSH, derives from the epigenetic dysregulation of the GNAS locus. Read More

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http://dx.doi.org/10.1186/s13148-018-0607-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322333PMC
January 2019

[Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders].

An Pediatr (Barc) 2018 Dec 24. Epub 2018 Dec 24.

Grupo de Investigación de Enfermedades Raras, Laboratorio de (Epi)Genética Molecular, Instituto de Investigación Sanitaria BioAraba, OSI Araba-Txagorritxu, Vitoria-Gasteiz, España.

Since Albright and co-workers described pseudohypoparathyroidism in 1942 as the combined presence of hypocalcaemia and hyperphosphataemia associated with the existence of tissue resistance to parathyroid hormone (PTH) action upon normal renal function, great advances have been made in the clinical and genetic profile of patients affected by this condition. Furthermore, not only have genetic bases of pseudohypoparathyroidism been unravelled, but also variants in other genes involved in the PTH/PTHrP signalling pathway through Gsα, have been identified as the cause of diseases that share clinical features with pseudohypoparathyroidism. In the paediatric setting, the first symptoms suggesting the impairment of this signalling pathway are the presence of subcutaneous ossifications, brachydactyly and/or early onset obesity, followed by the possible development of PTH resistance. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S16954033183054
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http://dx.doi.org/10.1016/j.anpedi.2018.11.014DOI Listing
December 2018
2 Reads

Cardiovascular findings in patients with non-surgical hypoparathyroidism and pseudohypoparathyroidism: a cohort study.

Clin Endocrinol (Oxf) 2018 Dec 27. Epub 2018 Dec 27.

Dept. of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.

Objective: As only sparse data are available on indices of cardiovascular health among patients with non-surgical hypoparathyroidism (Ns-HypoPT) and pseudohypoparathyroidism (PHP), we aimed to compare the cardiovascular profile between these groups of patients.

Methods: 56 patients with Ns-HypoPT and 30 with PHP were included and underwent a clinical examination including blood sampling and measurements of arterial stiffness, pulse wave velocity (PWV) and blood pressure. Arterial stiffness and pulse wave velocity was measured using AtCor SpygmoCor-XCEL (Atcor Medical Pty Ltd, Sydney, Australia) RESULTS: Patients with Ns-HypoPT had an average age of 47±17 years (68% females) and PHP patients 36±13 years (80% females). Read More

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http://dx.doi.org/10.1111/cen.13927DOI Listing
December 2018

Cranio-Maxillofacial and Dental Findings in Albright's Hereditary Osteodystrophy and Pseudohypoparathyroidism.

Cleft Palate Craniofac J 2018 Nov 29:1055665618814661. Epub 2018 Nov 29.

1 Oral and Maxillofacial Surgery Department, Roger Salengro Hospital, CHU Lille, University of Lille, Lille, France.

Introduction:: The clinical phenotype of pseudohypoparathyroidism (PHP) is caused by Albright's Hereditary Osteodystrophy (AHO). Often, "round face" the only facial clinical sign reported in the literature. The aim of this study was to highlight various cranio-maxillofacial clinical findings associated with AHO. Read More

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http://dx.doi.org/10.1177/1055665618814661DOI Listing
November 2018
2 Reads

A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals.

J Bone Miner Res 2018 Nov 20. Epub 2018 Nov 20.

Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Short metacarpals and/or metatarsals are typically observed in pseudohypoparathyroidism (PHP) type Ia (PHP1A) or pseudo-PHP (PPHP), disorders caused by inactivating GNAS mutations involving exons encoding the alpha-subunit of the stimulatory G protein (Gsα). Skeletal abnormalities similar to those in PHP1A/PPHP were present in several members of an extended Belgian family without evidence for abnormal calcium and phosphate regulation. Direct nucleotide sequencing of genomic DNA from an affected individual (190/III-1) excluded GNAS mutations. Read More

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http://doi.wiley.com/10.1002/jbmr.3628
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http://dx.doi.org/10.1002/jbmr.3628DOI Listing
November 2018
6 Reads

Hypocalcemic disorders.

Best Pract Res Clin Endocrinol Metab 2018 10 28;32(5):639-656. Epub 2018 May 28.

Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Thier 1101, 50 Blossom St, Boston, MA, 02114, USA. Electronic address:

Calcium is vital for life, and extracellular calcium concentrations must constantly be maintained within a precise concentration range. Low serum calcium (hypocalcemia) occurs in conjunction with multiple disorders and can be life-threatening if severe. Symptoms of acute hypocalcemia include neuromuscular irritability, tetany, and seizures, which are rapidly resolved with intravenous administration of calcium gluconate. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S1521690X183007
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http://dx.doi.org/10.1016/j.beem.2018.05.006DOI Listing
October 2018
7 Reads

Intracranial vascular calcification with extensive white matter changes in an autopsy case of pseudopseudohypoparathyroidism.

Neuropathology 2018 Nov 14. Epub 2018 Nov 14.

Department of Neurology, Ban Buntane Hotokukai Hospital, School of Medicine, Fujita Health University, Aichi, Japan.

We herein report an autopsy case of a 69-year-old man with pseudopseudohypoparathyroidism. The patient suffered from mental retardation and spastic tetraparesis and had all the features of Albright's hereditary osteodystrophy with a normal response to parathyroid hormone in the Ellsworth-Howard test. Computed tomography demonstrated symmetrical massive brain calcification involving the bilateral basal ganglia, thalami, dentate nuclei and cerebral gray/white matter junctions, which was consistent with Fahr's syndrome. Read More

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http://doi.wiley.com/10.1111/neup.12518
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http://dx.doi.org/10.1111/neup.12518DOI Listing
November 2018
11 Reads

Fahr's syndrome in Southern Tunisia: A broad spectrum of clinical and etiological features.

Tunis Med 2018 Aug - Sep;96(8-09):490-494

Aim: We describe the clinical and etiological profile of patients with Fahr's syndrome (FS).

Methods: Charts of sixteen patients diagnosed with FS between 1999 and 2014 were retrospectively assessed.

Results:   The mean age at diagnosis was 44. Read More

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November 2018
1 Read

Renal tubular dysfunction fully accounts for plasma biochemical abnormalities in Type 1A Pseudohypoparathyroidism.

J Clin Endocrinol Metab 2018 Nov 9. Epub 2018 Nov 9.

Nephrology, Bambino Gesù Children's Research Hospital.

Context: Type 1A Pseudohypoparathyroidism (PHP-1A) is characterized by target organ resistance to parathyroid hormone (PTH). Patients can show various dysmorphic features, but renal failure is not classically described.

Case Description: A female patient came to our attention at the age of seven years with characteristic signs of PTH resistance, namely hypocalcemia, hyperphosphatemia and high serum PTH levels. Read More

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-01193DOI Listing
November 2018
11 Reads

Pseudohypoparathyroidism.

Endocrinol Metab Clin North Am 2018 12 12;47(4):865-888. Epub 2018 Oct 12.

Endocrine Unit, Massachusetts General Hospital, Harvard Medical School, 50 Blossom street, Boston, MA 02114, USA; Pediatric Nephrology Unit, Massachusetts General Hospital, Harvard Medical School, 50 Blossom street, Boston, MA 02114, USA.

Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of uncommon, yet related metabolic disorders that are characterized by impaired activation of the Gsα/cAMP/PKA signaling pathway by parathyroid hormone (PTH) and other hormones that interact with Gsa-coupled receptors. Proximal renal tubular resistance to PTH and thus hypocalcemia and hyperphosphatemia, frequently in presence of brachydactyly, ectopic ossification, early-onset obesity, or short stature are common features of PHP. Registries and large cohorts of patients are needed to conduct clinical and genetic research, to improve the still limited knowledge regarding the underlying disease mechanisms, and allow the development of novel therapies. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08898529183054
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http://dx.doi.org/10.1016/j.ecl.2018.07.011DOI Listing
December 2018
8 Reads

Medical Hypoparathyroidism.

Endocrinol Metab Clin North Am 2018 12 11;47(4):797-808. Epub 2018 Oct 11.

Calcium Disorders Clinic, McMaster University, 50 Charlton Ave East, Hamilton, Ontario L8N 4A6, Canada. Electronic address:

Hypoparathyroidism is a metabolic disorder characterized by hypocalcemia, hyperphosphatemia, and inadequate levels of or function of parathyroid hormone (PTH). The authors review the nonsurgical or medical causes of hypoparathyroidism. The most common of the nonsurgical causes is autoimmune destruction of the parathyroid. Read More

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http://dx.doi.org/10.1016/j.ecl.2018.07.006DOI Listing
December 2018
2 Reads

Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a mutation.

Clin Case Rep 2018 Oct 16;6(10):1933-1940. Epub 2018 Aug 16.

Centre de Génétique Humaine Institut de Pathologie et de Génétique Gosselies Belgium.

Germline loss-of-function mutations are associated with multiple phenotypes, depending on the parental origin of the mutant allele. Here, we describe an infantile lethal form of atypical pseudohypoparathyroidism type 1a or 1c with severe Albright's hereditary osteodystrophy phenotype, underlying the extremely variable expressivity of this syndrome. Read More

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http://doi.wiley.com/10.1002/ccr3.1739
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http://dx.doi.org/10.1002/ccr3.1739DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186887PMC
October 2018
5 Reads

A new multi-system disorder caused by the Gαs mutation p.F376V.

J Clin Endocrinol Metab 2018 Oct 11. Epub 2018 Oct 11.

Department for Pediatric Endocrinology and Diabetology; Berlin, Germany.

Context: The alpha-subunit of the stimulatory G-protein (Gαs) links numerous receptors to adenylyl cyclase. Gαs, encoded by GNAS, is expressed predominantly from the maternal allele in certain tissues. Thus, maternal heterozygous loss-of-function mutations cause hormonal resistance, as in pseudohypoparathyroidism type Ia, while somatic gain-of-function mutations cause hormone-independent endocrine stimulation, as in McCune-Albright Syndrome. Read More

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http://dx.doi.org/10.1210/jc.2018-01250DOI Listing
October 2018
1 Read

Wind of change in pseudohypoparathyroidism and related disorders: New classification and first international management consensus.

Endocrinol Diabetes Nutr 2018 Oct;65(8):425-427

Molecular (Epi)Genetics Laboratory, Bioaraba National Health Institute, OSI Araba-Txagorritxu, Vitoria-Gasteiz, Alava, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.endinu.2018.08.002DOI Listing
October 2018
3 Reads

Severe Hypocalcemia and Extreme Elevation of Serum Creatinkinase in a 16-Year Old Boy with Pseudohypoparathyroidism Type Ib.

Acta Medica (Hradec Kralove) 2018;61(2):53-56

Department of Pediatrics, Pardubice Hospital, Czech Republic.

Calcium is essential for proper muscular function and metabolism. Myopathy with high creatinkinase activity can be a rare manifestation of hypocalcemia of various origin, such as vitamin D deficiency, hypoparathyroidism, pseudohypoparathyroidism (PHP). 16-year old previously healthy boy was admitted to intensive care unit with convulsions lasting for three minutes and a transient loss of consciousness. Read More

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http://dx.doi.org/10.14712/18059694.2018.51DOI Listing
December 2018
8 Reads

Acrophobia in a Young Girl with Parathyroid Hormone Resistance (Pseudohypoparathyroidism).

J Coll Physicians Surg Pak 2018 Sep;28(9):S166-S168

Department of Chemical Pathology, Armed Forces Institute of Pathology, Rawalpindi and National University of Medical Sciences (NUMS), Rawalpindi.

Pseudohypoparathyroidism (PHP) is an extremely rare group of disorders. It is a spectrum of disorders caused by end organ resistance to parathyroid hormone (PTH) and is represented by impaired signalling that activates cAMP dependent pathways via alpha subunit of G-protein (GS). It is characterised by hypocalcemia, hyperphosphatemia, raised PTH levels due to insensitivity to biological activity of PTH, and normal renal function tests. Read More

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http://dx.doi.org/10.29271/jcpsp.2018.09.S166DOI Listing
September 2018
3 Reads

Brachydactyly mental retardation syndrome with growth hormone deficiency.

Endocrinol Diabetes Metab Case Rep 2018 21;2018. Epub 2018 Jul 21.

School of Medicine, Islamic Azad University Medical Branch of Tehran, Tehran, Iran.

Deletion of chromosome 2q37 results in a rare congenital syndrome known as brachydactyly mental retardation (BDMR) syndrome; a syndrome which has phenotypes similar to Albright hereditary osteodystrophy (AHO) syndrome. In this report, we describe a patient with AHO due to microdeletion in long arm of chromosome 2 [del(2)(q37.3)] who had growth hormone (GH) deficiency, which is a unique feature among reported BDMR cases. Read More

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http://dx.doi.org/10.1530/EDM-18-0068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063990PMC
July 2018
2 Reads

Glucose Homeostasis and Energy Balance in Children With Pseudohypoparathyroidism.

J Clin Endocrinol Metab 2018 Nov;103(11):4265-4274

Department of Pediatrics, Division of Pediatric Endocrinology, Vanderbilt University Medical Center, Nashville, Tennessee.

Context: Pseudohypoparathyroidism (PHP) is a rare genetic disorder characterized by early-onset obesity and multihormone resistance. To treat abnormal weight gain and prevent complications such as diabetes, we must understand energy balance and glucose homeostasis in PHP types 1A and 1B.

Objective: The aim of this study was to evaluate food intake, energy expenditure, and glucose homeostasis in children with PHP. Read More

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-01067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194807PMC
November 2018
10 Reads

Ossifying epulis in pseudohypo-parathyroidism: a case-based therapeutic approach.

Eur J Paediatr Dent 2018 Sep;19(3):218-220

Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Università Cattolica del Sacro Cuore, Institute of Dentistry and Maxillofacial Surgery, Head: Prof. Massimo Cordaro.

Background: The term Pseudohypoparathiroidism indicates a group of rare conditions characterised by end-organ resistance to the action of parathyroid hormone (PTH). Ossifying epulis (OE) is a exophytic gingival lesion characterised by spontaneous bone formation beneath the mucosa, which may affect children and adults: the exophytic, calcified outgrowths can occur in any bone and generally have favorable prognosis. Drug therapy may normalise calcium serum levels, but not completely avoid the occurrence of peripheral ossifying epulis. Read More

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http://dx.doi.org/10.23804/ejpd.2018.19.03.9DOI Listing
September 2018
12 Reads

Identification of a novel GNAS mutation in a case of pseudohypoparathyroidism type 1A with normocalcemia.

BMC Med Genet 2018 Jul 30;19(1):132. Epub 2018 Jul 30.

Department of Endorcrinology, The third Xiangya Hospital Central South University, Tongzipo Road, 410007, Changsha, Hunan Province, People's Republic of China.

Background: Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disease primarily characterized by resistance to parathyroid hormone along with hormonal resistance and other features of Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations in the maternal allele of the GNAS gene, which encodes the stimulatory G-protein alpha subunit (Gsα) and regulates production of the second messenger cyclic AMP (cAMP). Herein, we report a case of of PHP1A with atypical clinical manifestations (oligomenorrhea, subclinical hypothyroidism, and normocalcemia) and explore the underlying genetic cause in this patient. Read More

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http://dx.doi.org/10.1186/s12881-018-0648-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6065144PMC
July 2018
4 Reads

Further delineation of the phenotype caused by loss of function mutations in PRMT7.

Eur J Med Genet 2018 Jul 10. Epub 2018 Jul 10.

Department of Clinical and Molecular Genetics and Rare Disease Unit, University Hospital Vall d´Hebron, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain. Electronic address:

PRMT7 encodes for an arginine methyltransferase that methylates arginine residues on various protein substrates and has been shown to play a role in various developmental processes. Mutations in PRMT7 have been recently shown to be implicated in a phenotype with intellectual disability, short stature and brachydactyly, and considered to be a phenocopy of pseudohypoparathyroidism. We report a patient with short stature, psychomotor delay, hearing loss and brachydactyly, for whom whole exome sequencing detected two mutations in PRMT7 and parental segregation studies detected biallelic mutation inheritance. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.07.007DOI Listing
July 2018
64 Reads

Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review.

Front Physiol 2018 19;9:701. Epub 2018 Jun 19.

Section for Pediatric Dentistry, Department of Dentistry and Oral Health, Health, Aarhus University, Aarhus, Denmark.

Dental aberrations have been mentioned in relation to non-surgical hypoparathyroidism (Ns-HypoPT) and pseudohypoparathyroidism (PHP). However, a systematic review of dental characteristics have not been performed. The present systematic review describes the dental findings in patients with Ns-HypoPT and PHP. Read More

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http://dx.doi.org/10.3389/fphys.2018.00701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018410PMC
June 2018
6 Reads

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.

Nat Rev Endocrinol 2018 Aug;14(8):476-500

APHP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Sud for Rare Diseases and Filière OSCAR, Bicêtre Paris Sud Hospital (HUPS), Le Kremlin-Bicêtre, France.

This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. Read More

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http://www.nature.com/articles/s41574-018-0042-0
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http://dx.doi.org/10.1038/s41574-018-0042-0DOI Listing
August 2018
39 Reads

Case Report of a Satin Guinea Pig with Fibrous Osteodystrophy That Resembles Human Pseudohypoparathyroidism.

Authors:
Miguel Gallego

Case Rep Vet Med 2017 27;2017:1321656. Epub 2017 Jul 27.

Centro Veterinario Madrid Exóticos, Madrid, Spain.

A case report of a 2-year-old female satin guinea pig with a history of dental overgrowth and lameness and radiological lesions of fibrous osteodystrophy is presented. The most relevant clinical findings were bone demineralization, high level of parathyroid hormone (PTH), normophosphatemia, normal ionized calcium, and low total thyroxine (tT4) with a normal renal function. Long-term treatment was based on teeth coronal reduction and maintaining a balanced diet. Read More

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http://dx.doi.org/10.1155/2017/1321656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005281PMC
July 2017
1 Read

Metabolic Syndrome in Parathyroid Diseases.

Front Horm Res 2018 5;49:67-84. Epub 2018 Apr 5.

Parathyroid glands are the main regulator of body mineral metabolism through parathormone (PTH) actions on bone and kidney. Experimental evidence suggests that PTH may have non-classical target organs such as adipose tissue, arterial vascular wall, cardiac muscle cells, and adrenal cortex cells, where it may play a role in controlling body energy, blood pressure, and metabolism. Cardiometabolic features have been investigated in the wide spectrum of clinical parathyroid disorders, from hyperparathyroidism to pseudohypoparathyroidism and hypoparathyroidism. Read More

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http://dx.doi.org/10.1159/000486003DOI Listing
January 2019
2 Reads

[Pseudohypoparathyroidism: report of two cases of late presentation].

Rev Med Chil 2018 Jan;146(1):116-121

Departamento de Endocrinología, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype: short stature, round facies, short neck, obesity, brachydactyly and subcutaneous calcifications, called Albrigth's Hereditary Osteodystrophy (AHO). Read More

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http://dx.doi.org/10.4067/s0034-98872018000100116DOI Listing
January 2018
2 Reads

Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a.

Case Rep Endocrinol 2018 22;2018:7813591. Epub 2018 Jan 22.

Department of Internal Medicine, Hospital de Chaves, Centro Hospitalar de Trás-os-Montes e Alto Douro, Chaves, Portugal.

Introduction: Pseudohypoparathyroidism type 1a is caused by GNAS mutations leading to target organ resistance to multiple hormones rather than parathyroid hormone, resulting not only in hypocalcemia, but also in Albright's hereditary osteodystrophy phenotype.

Materials And Methods: DNA sequencing of the GNAS gene identified a novel heterozygous mutation in peripheral blood leukocytes in the family presented in this case report.

Results: We present a case of a 25-year-old woman with pseudohypoparathyroidism type 1a admitted with seizures, whose family presents an autosomal dominant transmission of a novel heterozygous GNAS mutation (c. Read More

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http://dx.doi.org/10.1155/2018/7813591DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5896320PMC
January 2018
2 Reads

Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary?

J Pediatr 2018 Aug 23;199:263-266. Epub 2018 Apr 23.

Section of Pediatric Endocrinology and Diabetology, Riley Hospital for Children, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN; Division of Endocrinology & Metabolism, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN.

The prevalence of nephrocalcinosis in persons with pseudohypoparathyroidism has not been systematically examined. We conducted a retrospective study of renal imaging and biochemical results in 19 patients with pseudohypoparathyroidism with 49 imaging assessments. No cases of nephrocalcinosis were identified. Read More

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http://dx.doi.org/10.1016/j.jpeds.2018.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063781PMC
August 2018
6 Reads

Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity.

J Bone Miner Res 2018 Aug 7;33(8):1480-1488. Epub 2018 Jun 7.

INSERM U1169 and Paris Sud Paris-Saclay University, Bicêtre Paris Sud Hospital, Le Kremlin Bicêtre, France.

Pseudohypoparathyroidism type 1A (PHP1A), pseudoPHP (PPHP), and PHP type 1B (PHP1B) are caused by maternal and paternal GNAS mutations and abnormal methylation at maternal GNAS promoter(s), respectively. Adult PHP1A patients are reportedly obese and short, whereas most PPHP patients are born small. In addition to parathyroid hormone (PTH) resistance, PHP1A and PHP1B patients may display early-onset obesity. Read More

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http://dx.doi.org/10.1002/jbmr.3450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105438PMC
August 2018
9 Reads

Multiple hormone resistance and alterations of G-protein-coupled receptors signaling.

Best Pract Res Clin Endocrinol Metab 2018 04 31;32(2):141-154. Epub 2018 Jan 31.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address:

Metabolic disorders deriving from the non-responsiveness of target organs to hormones, which manifest clinically similar to the deficiency of a given hormone itself, derive from molecular alterations affecting specific hormone receptors. Pseudohypoparathyroidism (PHP) and related disorders exemplify an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key regulator of cAMP signaling pathway, or, as more recently described, of downstream effector proteins of the same pathway, such as PKA regulatory subunit 1A (R1A) and phosphodyestarase type 4D (PDE4D). In this group of diseases, resistance to hormones such as PTH, TSH, gonadotropins and GHRH may be variably present, so that the clinical and molecular overlap among these different but related disorders represents a challenge for endocrinologists as to differential diagnosis and genetic counseling. Read More

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http://dx.doi.org/10.1016/j.beem.2018.01.002DOI Listing
April 2018
4 Reads

Disease-Causing Mutations in the G Protein Gαs Subvert the Roles of GDP and GTP.

Cell 2018 May 5;173(5):1254-1264.e11. Epub 2018 Apr 5.

Department of Cellular and Molecular Pharmacology and Howard Hughes Medical Institute, University of California-San Francisco, San Francisco, CA 94158, USA; Department of Chemistry, University of California-Berkeley, Berkeley, CA 94720, USA. Electronic address:

The single most frequent cancer-causing mutation across all heterotrimeric G proteins is R201C in Gαs. The current model explaining the gain-of-function activity of the R201 mutations is through the loss of GTPase activity and resulting inability to switch off to the GDP state. Here, we find that the R201C mutation can bypass the need for GTP binding by directly activating GDP-bound Gαs through stabilization of an intramolecular hydrogen bond network. Read More

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http://dx.doi.org/10.1016/j.cell.2018.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959768PMC
May 2018
1 Read

Health-related quality of life in patients with nonsurgical hypoparathyroidism and pseudohypoparathyroidism.

Clin Endocrinol (Oxf) 2018 Jun 3;88(6):838-847. Epub 2018 Apr 3.

Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus C, Denmark.

Objective: Nonsurgical hypoparathyroidism (NS-HypoPT) and pseudohypoparathyroidism (PHP) are rare diseases, with a prevalence of 2/100.000 and 1/100.000, respectively. Read More

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http://dx.doi.org/10.1111/cen.13593DOI Listing
June 2018
8 Reads

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.

BMC Med Genet 2018 03 2;19(1):32. Epub 2018 Mar 2.

Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, OSI Araba University Hospital, C/ Jose Atxotegi s/n, 01009, Vitoria-Gasteiz, Spain.

Background: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations. Read More

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http://dx.doi.org/10.1186/s12881-018-0530-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834905PMC
March 2018
1 Read

Pseudohypoparathyroidism type 1a.

QJM 2018 May;111(5):331-333

Department of General Medicine, Government Medical College and Hospital, Sector 32, Chandigarh 160030, India.

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http://dx.doi.org/10.1093/qjmed/hcy038DOI Listing

Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth.

Bone 2018 05 20;110:230-237. Epub 2018 Feb 20.

Endocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. Electronic address:

GNAS mutations leading to constitutively active stimulatory G protein alpha-subunit (Gsα) cause different tumors, fibrous dysplasia of bone, and McCune-Albright syndrome, which are typically not associated with short stature. Enhanced signaling of the parathyroid hormone/parathyroid hormone-related peptide receptor, which couples to multiple G proteins including Gsα, leads to short bones with delayed endochondral ossification. It has remained unknown whether constitutive Gsα activity also impairs bone growth. Read More

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http://dx.doi.org/10.1016/j.bone.2018.02.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5878747PMC
May 2018
12 Reads

Painful subcutaneous nodules on the thigh.

Dermatol Online J 2017 Sep 15;23(9). Epub 2017 Sep 15.

Department of Dermatology, Mount Sinai Health System, New York, New York.

Osteoma cutis is the presence of bone within the dermis or subcutaneous tissue. This condition may occur sporadically or secondary to other dermatologic or genetic conditions. We present a 12-year-old girl with pseudohypoparathyroidism type-Ia who developed osteoma cutis on the right thigh. Read More

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September 2017
7 Reads

Obstructive Sleep Apnea and Otolaryngologic Manifestations in Children with Pseudohypoparathyroidism.

Horm Res Paediatr 2018 16;89(3):178-183. Epub 2018 Feb 16.

Department of Pediatrics, Division of Pediatric Endocrinology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

Background/aims: Pseudohypoparathyroidism (PHP) is a rare, genetic disorder. Patients with PHP may have increased prevalence of obstructive sleep apnea (OSA) but this has not been prospectively studied.

Methods: We enrolled children aged 6-18 years with PHP and matched controls. Read More

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http://dx.doi.org/10.1159/000486715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208325PMC
September 2018
10 Reads

Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases.

Clin Epigenetics 2018 6;10:16. Epub 2018 Feb 6.

1Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Via Francesco Sforza, 35-20122 Milan, Italy.

Background: Pseudohypoparathyroidism type 1B (PHP1B; MIM#603233) is a rare imprinting disorder (ID), associated with the GNAS locus, characterized by parathyroid hormone (PTH) resistance in the absence of other endocrine or physical abnormalities. Sporadic PHP1B cases, with no known underlying primary genetic lesions, could represent true stochastic errors in early embryonic maintenance of methylation. Previous data confirmed the existence of different degrees of methylation defects associated with PHP1B and suggested the presence of mosaicism, a phenomenon already described in the context of other IDs. Read More

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http://dx.doi.org/10.1186/s13148-018-0449-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5801752PMC
February 2018
7 Reads

Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with Brachydactyly.

J Pediatr 2018 May 21;196:321. Epub 2018 Feb 21.

Department of Radiology Montreal Children's Hospital McGill University Health Centre (MUHC) Montreal, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2017.12.083DOI Listing
May 2018
5 Reads

Pseudohypoparathyroidism type 1B in a patient conceived by in vitro fertilization: another imprinting disorder reported with assisted reproductive technology.

J Assist Reprod Genet 2018 Jun 7;35(6):975-979. Epub 2018 Feb 7.

Pediatric Endocrinology, Mercy Hospital St. Louis, St. Louis, MO, USA.

Pseudohypoparathyroidism type 1B (PHP1B) is characterized by renal tubular resistance to parathyroid hormone (PTH) leading to hyperphosphatemia, hypocalcemia, elevated PTH, and hyperparathyroid bone changes. PHP1B is an imprinting disorder that results from loss of methylation at the maternal GNAS gene, which suppresses transcription of the alpha subunit of the stimulatory G protein of the PTH receptor. Emerging evidence supports an association between assisted reproductive technologies (ART) and imprinting disorders; however, there is currently little evidence linking PHP1B and ART. Read More

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http://dx.doi.org/10.1007/s10815-018-1129-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030019PMC
June 2018
8 Reads

Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review.

Cureus 2017 Nov 26;9(11):e1878. Epub 2017 Nov 26.

Assistant Clinical Professor of Internal Medicine, West Virginia University School of Medicine.

Pseudohypoparathyroidism is a rare condition that is due to a defect in the stimulatory G-protein coupled receptor, resulting in end-organ resistance to parathyroid hormone. Hereditary forms of pseudohypoparathyroidism present with certain classic features such as obesity, short stature, brachydactyly, and intellectual disability. Constellation of these physical features is known as Albright's hereditary osteodystrophy. Read More

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http://dx.doi.org/10.7759/cureus.1878DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786345PMC
November 2017
5 Reads

(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.

J Endocr Soc 2018 Jan 21;2(1):9-23. Epub 2017 Nov 21.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.

Context: Pseudohypoparathyroidism type I (PHP-I) is divided into PHP-Ia with Albright hereditary osteodystrophy and PHP-Ib, which usually shows no Albright hereditary osteodystrophy features. Although PHP-Ia and PHP-Ib are typically caused by genetic defects involving subunit of the stimulatory G protein (Gs)-coding exons and methylation defects of the differentially methylated regions (DMRs) on the maternal allele, respectively, detailed phenotypic characteristics still remains to be examined.

Objective: To clarify phenotypic characteristics according to underlying (epi)genetic causes. Read More

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http://dx.doi.org/10.1210/js.2017-00293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779104PMC
January 2018
4 Reads

A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a.

Cytogenet Genome Res 2017 11;153(3):125-130. Epub 2018 Jan 11.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

Germline intragenic mutations in the GNAS locus result in pseudohypoparathyroidism type 1a (PHP1a) and related conditions. Nearly half of the previously reported GNAS intragenic mutations were structural variants, including 3 tandem duplications of 12-25 bp. However, the precise mutation spectrum and the genomic basis of GNAS structural variants remain to be clarified. Read More

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http://dx.doi.org/10.1159/000485644DOI Listing
March 2018
4 Reads

The Importance of Networking in Pseudohypoparathyroidism: EuroPHP Network and Patient Support Associations.

Pediatr Endocrinol Rev 2017 Nov;15(Suppl 1):92-97

Molecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain.

Pseudohypoparathyroidism is a rare endocrine disorder with an estimated prevalence of 1/100,000. It is characterized by hypocalcemia and hyperphosphatemia in the absence of vitamin D deficiency or impaired renal function. Research studies during the last 20 years have led to the identification of the molecular underlying cause of the disease, the characterization of the clinical and biochemical characteristics and the observation of an overlap between genetic and clinical manifestations. Read More

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http://dx.doi.org/10.17458/per.vol15.2017.lmg.pseudohypoparathyroidismDOI Listing
November 2017
17 Reads

Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder.

Authors:
Serap Turan

J Clin Res Pediatr Endocrinol 2017 Dec 27;9(Suppl 2):58-68. Epub 2017 Dec 27.

Marmara University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey.

Disorders related to parathyroid hormone (PTH) resistance and PTH signaling pathway impairment are historically classified under the term of pseudohypoparathyroidism (PHP). The disease was first described and named by Fuller Albright and colleagues in 1942. Albright hereditary osteodystrophy (AHO) is described as an associated clinical entity with PHP, characterized by brachydactyly, subcutaneous ossifications, round face, short stature and a stocky build. Read More

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http://dx.doi.org/10.4274/jcrpe.2017.S006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790322PMC
December 2017
7 Reads

Bone Mineral Density and Its Serial Changes Are Associated With PTH Levels in Pseudohypoparathyroidism Type 1B Patients.

J Bone Miner Res 2018 Apr 3;33(4):743-752. Epub 2018 Jan 3.

Department of Endocrinology, Key Laboratory of Endocrinology of National Health and Family Planning Commission, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences (CAMS), Beijing, China.

Bone responsiveness to serum parathyroid hormone (PTH) in pseudohypoparathyroidism 1B (PHP1B) is controversial. Forty-eight PHP1B patients diagnosed by molecular analysis were recruited from 2000 to 2016 from the Peking Union Medical College Hospital. Fifty-five sex-matched nonsurgical hypoparathyroidism (NS-HP) patients were selected and included for comparison. Read More

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http://dx.doi.org/10.1002/jbmr.3360DOI Listing
April 2018
32 Reads

Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A.

Am J Med Genet A 2018 02 28;176(2):283-289. Epub 2017 Nov 28.

Division of Pediatric Endocrinology, Vanderbilt University Medical Center, Nashville, Tennessee.

Pseudohypoparathyroidism 1A (PHP1A) is a rare, genetic disorder. Most patients with PHP1A have cognitive impairment but this has not been systematically studied. We hypothesized that children with PHP1A would have lower intelligent quotient (IQ) scores than controls. Read More

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http://dx.doi.org/10.1002/ajmg.a.38534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5942181PMC
February 2018
4 Reads